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Diaph2 Gene Detail
Summary
  • Symbol
    Diaph2
  • Name
    diaphanous related formin 2
  • Synonyms
    Dia3, Diap2, E430022I22Rik, mDia3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858500
    NCBI Gene: 54004
  • Alliance
    gene page
  • Transcription Start Sites
    40 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:128650491-129366583 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 52.36 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    12375 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1858500
 protein coding gene ChrX:128650409-129366583 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036053
 protein coding gene ChrX:126795949-127562642 (+)
A/J MGP_AJ_G0036036
 protein coding gene ChrX:126242928-126966321 (+)
AKR/J MGP_AKRJ_G0035955
 protein coding gene ChrX:130316899-131063111 (+)
BALB/cJ MGP_BALBcJ_G0036027
 protein coding gene ChrX:124721400-125435760 (+)
C3H/HeJ MGP_C3HHeJ_G0035731
 protein coding gene ChrX:126884093-127615220 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036549
 protein coding gene ChrX:130565663-131316380 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033377
 protein coding gene ChrX:118714540-119397794 (+)
CAST/EiJ MGP_CASTEiJ_G0035018
 protein coding gene ChrX:107874858-108605594 (+)
CBA/J MGP_CBAJ_G0035708
 protein coding gene ChrX:134380288-135166764 (+)
DBA/2J MGP_DBA2J_G0035861
 protein coding gene ChrX:125643522-126344867 (+)
FVB/NJ MGP_FVBNJ_G0035803
 protein coding gene ChrX:124953101-125671855 (+)
LP/J MGP_LPJ_G0035954
 protein coding gene ChrX:127669363-128390572 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035831
 protein coding gene ChrX:141214800-142116482 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036578
 protein coding gene ChrX:126246490-126977804 (+)
PWK/PhJ MGP_PWKPhJ_G0034710
 protein coding gene ChrX:104900083-105612009 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034542
 protein coding gene ChrX:108394817-109150299 (+)
WSB/EiJ MGP_WSBEiJ_G0035155
 protein coding gene ChrX:124723966-125445796 (+)



Homology
more
  • Human Ortholog
    DIAPH2, diaphanous related formin 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DIAPH2, diaphanous related formin 2
  • Synonyms
    DIA, DIA2, DRF2, POF, POF2, POF2A
  • Links
    NCBI Gene ID: 1730
    neXtProt AC: NX_O60879
    UniProt: O60879

  • Chr Location
    Xq21.33; chrX:96684712-97604997 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human DIAPH2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 6 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    16 images
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Male chimeras hemizygous for a gene-trapped allele appear normal at E10.5. Chimeras hemizygous for another gene-trapped allele exhibit hemorrhage, cardiac defects, and brain malformations from E11 onward. Homo- or hemizygous knockout does not affect hearing.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    743
  • Tissues
    16
  • cDNA Data
    21
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034480 Ensembl Gene Model | MGI Sequence Detail 716093 C57BL/6J ±  kb
    transcript ENSMUST00000037854 Ensembl | MGI Sequence Detail 3742 Not Applicable  
    polypeptide ENSMUSP00000039334 Ensembl | MGI Sequence Detail 1102 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 21
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2444333
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 7
      Gene Ontology 7
      Phenotypes 24
    • Earliest
      J:47262 Bione S, et al., A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998 Mar;62(3):533-41
    • Latest
      J:353355 Yao X, et al., BCAS2 regulates oocyte meiotic prophase I by participating in mRNA alternative splicing. FASEB J. 2024 Jan;38(1):e23361
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory